title: The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome.
abstract: Peutz-Jeghers syndrome (PJS) is a rare, dominantly inherited disorder characterized by gastrointestinal hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. We present a 16-month-old child diagnosed with PJS, who had distinguishing features compared with the previously reported cases with respect to her clinical presentation, associated malignancies, and genetic analysis. To our knowledge, this is the first report of adrenocortical carcinoma in association with PJS, as well as the first instance of associated thyroid cancer in a child with PJS. We briefly review the relevant literature and highlight the recent progress achieved in the investigation of the syndrome.
authors.affiliation: Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey. suleyal@hacettepe.edu.tr
authors.forename: Sule
authors.initials: S
authors.lastname: Yalçin
authors.forename: Elif
authors.initials: E
authors.lastname: Kirli
authors.forename: Arbay O
authors.initials: AO
authors.lastname: Ciftci
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Karnak
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Resta
authors.forename: Rosanna
authors.initials: R
authors.lastname: Bagnulo
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Akçören
authors.forename: Diclehan
authors.initials: D
authors.lastname: Orhan
authors.forename: Mehmet Emin
authors.initials: ME
authors.lastname: Senocak
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000306:Adrenal Cortex Neoplasms / Q000150:complications / Q000235:genetics* / Q000601:surgery; D000315:Adrenalectomy; D018268:Adrenocortical Carcinoma / Q000150:complications / Q000235:genetics* / Q000601:surgery; D019943:Amino Acid Substitution; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000601:surgery; D005260:Female; D005799:Genes, Dominant; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007414:Intestinal Neoplasms / Q000150:complications / Q000235:genetics / Q000601:surgery; D007443:Intussusception / Q000209:etiology; D020125:Mutation, Missense; D010580:Peutz-Jeghers Syndrome / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D017354:Point Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000601:surgery; D013965:Thyroidectomy; D014770:Virilism / Q000209:etiology
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases